Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.V278M

MVK

633 papers

RefSeq Summary

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency...

Pfam Domains

GHMP_kinases_Naa 108–212UCSCGHMP kinases N terminal domain
GHMP_kinases_Caa 291–364UCSCGHMP kinases C terminal

Gene Aliases

HGNC Name

mevalonate kinase

HGNC Alias Symbols

LRBP; MK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000431.4
p.V278M
c.832G>A
Surrounding Variants
1 paper
NM_000431.4
p.V278L
c.832G>C
1 paper
NM_000431.4
p.V278L
c.832G>T
1 paper
NM_000431.4
p.R277R
c.831C>T
3 papers
NM_000431.4
p.V278A
c.833T>C
10 papers
NM_000431.4
p.R277H
c.830G>A
5 papers
NM_000431.4
p.R277G
c.829C>G
18 papers
NM_000431.4
p.R277C
c.829C>T
7 papers
NM_000431.4
p.L279P
c.836T>C
1 paper
NM_000431.4
p.E276_M282del7
c.826_845del21
1 paper
NM_000431.4
p.E281D
c.843G>C
1 paper
NM_000431.4
p.E281D
c.843G>T
3 papers
NM_000431.4
p.M282T
c.845T>C
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